ArticleEuropean journal of human genetics : EJHG2013
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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36 citing papers in PubMed, 58 citations in OpenAlex.
- Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.European journal of human genetics : EJHG · 2026Article
- Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.Case reports in genetics · 2026Article
- Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.Molecular autism · 2025Article
- Genomic Investigations of Spoken and Written Language Abilities: A Guide to Advances in Approaches, Technologies, and Discovery.Journal of speech, language, and hearing research : JSLHR · 2025Review
- The Cleveland Family Speech and Reading Study: A Review of Long-Term Outcomes Linking Phenotypes and Genotypes for Speech Sound Disorders.Journal of speech, language, and hearing research : JSLHR · 2025Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Importance of copy number variants in childhood apraxia of speech and other speech sound disorders.Communications biology · 2024Article
- Childhood Apraxia of Speech: A Descriptive and Prescriptive Model of Assessment and Diagnosis.Brain sciences · 2024Article
- Review of methods for conducting speech research with minimally verbal individuals with autism spectrum disorder.Augmentative and alternative communication (Baltimore, Md. : 1985) · 2023Review
- The Genetic and Molecular Basis of Developmental Language Disorder: A Review.Children (Basel, Switzerland) · 2022Review
- The Relationship Between Single-Word Speech Severity and Intelligibility in Childhood Apraxia of Speech.Journal of speech, language, and hearing research : JSLHR · 2022Article
- Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective.Journal of personalized medicine · 2022Article
- Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.Molecular genetics & genomic medicine · 2020Article
- Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.International journal of molecular sciences · 2019Article
- Estimates of the prevalence of speech and motor speech disorders in adolescents with Down syndrome.Clinical linguistics & phonetics · 2019Article
- Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.European journal of human genetics : EJHG · 2018Article
- Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.Clinical case reports · 2018Article
- A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker.Journal of speech, language, and hearing research : JSLHR · 2017Review
- Cognitive, Linguistic, and Motor Abilities in a Multigenerational Family with Childhood Apraxia of Speech.Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists · 2016Article
- A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.European journal of human genetics : EJHG · 2016Article
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Abstract
We report clinical findings that extend the phenotype of the ~550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree ('KE') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task. Each of the two patients in the current report completed a 2-h assessment protocol that provided information on their cognitive, language, speech, oral mechanism, motor, and developmental histories and performance. Their histories and standard scores on perceptual and acoustic speech tasks met clinical and research criteria for CAS. Array comparative genomic hybridization analyses identified deletions at chromosome 16p11.2 in each patient. These are the first reported cases with well-characterized CAS in the 16p11.2 syndrome literature and the first report of this microdeletion in CAS genetics research. We discuss implications of findings for issues in both literatures.
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